TARGETED PANELS PORTOFLIO / Neurología
Epilepsia
GENES
- AARS
- ABAT
- ACOX1
- ACTL6B
- ADAR
- ADAT3
- ADGRG1
- ADPRHL2
- ADRA2B
- ADSL
- AFF3
- AIMP1
- AIMP2
- AKT3
- ALDH5A1
- ALDH7A1
- ALG1
- ALG11
- ALG13
- ALG3
- ALG6
- ALG8
- ALG9
- ALKBH8
- ALPL
- AMPD2
- AMT
- AP2M1
- AP3B2
- ARFGEF2
- ARG1
- ARHGEF9
- ARID1B
- ARV1
- ARX
- ASAH1
- ASPA
- ATN1
- ATP1A1
- ATP1A2
- ATP1A3
- ATP5A1
- ATP6AP2
- ATP6V0A2
- ATP6V1A
- ATP7A
- ATRX
- BCKDHA
- BCKDHB
- BCS1L
- BOLA3
- BRAF
- BRAT1
- BSCL2
- BTD
- C12orf57
- CACNA1A
- CACNA1B
- CACNA1D
- CACNA1E
- CACNA1G
- CACNA1H
- CACNA2D2
- CAD
- CASK
- CC2D2A
- CCDC88A
- CCDC88C
- CDKL5
- CERS1
- CHD2
- CHRNA2
- CHRNA4
- CHRNB2
- CIC
- CLCN4
- CLN3
- CLN6
- CLN8
- CLPB
- CLTC
- CNKSR2
- CNNM2
- CNPY3
- CNTNAP2
- COG4
- COG6
- COG7
- COG8
- COL18A1
- COL4A1
- COL4A2
- COQ2
- COQ4
- COQ6
- COQ9
- COX10
- COX15
- CPA6
- CREBBP
- CSNK2B
- CSTB
- CTNNA2
- CTSD
- CTSF
- CUL4B
- CUX2
- CYFIP2
- CYP27A1
- D2HGDH
- DBT
- DCX
- DDX3X
- DEAF1
- DEGS1
- DENND5A
- DEPDC5
- DHCR24
- DHCR7
- DHDDS
- DHPS
- DHX30
- DIAPH1
- DNAJC5
- DNAJC6
- DNM1
- DNM1L
- DOCK7
- DOLK
- DPAGT1
- DPM1
- DPM2
- DPYD
- DYNC1H1
- DYRK1A
- EARS2
- EEF1A2
- EFHC1
- EFTUD2
- EHMT1
- EIF2B1
- EIF2B2
- EIF2B3
- EIF2B4
- EIF2B5
- EIF2S3
- EIF3F
- EML1
- EMX2
- EPG5
- EPM2A
- ETHE1
- EXOSC3
- EXT2
- FAR1
- FARS2
- FASTKD2
- FBXL4
- FBXO11
- FGF12
- FGFR3
- FH
- FKRP
- FKTN
- FLNA
- FOLR1
- FOXG1
- FOXRED1
- FRRS1L
- FUCA1
- FUK
- FUT8
- GABBR2
- GABRA1
- GABRA2
- GABRA5
- GABRB1
- GABRB2
- GABRB3
- GABRG2
- GALC
- GAMT
- GBA
- GCH1
- GFAP
- GFM1
- GLB1
- GLDC
- GLI3
- GLRA1
- GLUD1
- GLUL
- GLYCTK
- GM2A
- GNAO1
- GNAQ
- GNB1
- GNB5
- GOSR2
- GOT2
- GPAA1
- GPHN
- GRIA2
- GRIA4
- GRIN1
- GRIN2A
- GRIN2B
- GRIN2D
- GSS
- GTPBP2
- GTPBP3
- GUF1
- HACE1
- HAX1
- HCCS
- HCFC1
- HCN1
- HCN2
- HECW2
- HEPACAM
- HEXA
- HEXB
- HLCS
- HMGCL
- HNRNPH2
- HNRNPR
- HNRNPU
- HOXA1
- HPRT1
- HRAS
- HSD17B4
- HSPD1
- HTRA2
- IER3IP1
- IFIH1
- IKBKG
- IQSEC2
- IRF2BPL
- ISPD
- ITPA
- KARS
- KATNB1
- KCNA1
- KCNA2
- KCNB1
- KCNC1
- KCNJ10
- KCNJ11
- KCNK4
- KCNMA1
- KCNQ2
- KCNQ3
- KCNQ5
- KCNT1
- KCNT2
- KCTD3
- KCTD7
- KIAA1109
- KIF1A
- KIF1BP
- KIF2A
- KIF5C
- KMT2E
- KPTN
- KRAS
- LARGE1
- LGI1
- LIAS
- LIPT2
- LNPK
- LSS
- LYST
- MACF1
- MAF
- MAGI2
- MANBA
- MAP2K1
- MAP2K2
- MAST1
- MBD5
- MBOAT7
- MDH2
- MECP2
- MED12
- MED17
- MEF2C
- MFF
- MFSD8
- MLC1
- MMACHC
- MMADHC
- MOCS1
- MOCS2
- MOGS
- MPDU1
- MTHFR
- MTOR
- MTR
- NACC1
- NAGA
- NARS2
- NBEA
- NDE1
- NDP
- NDUFA1
- NDUFA10
- NDUFA2
- NDUFAF2
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFS1
- NDUFS2
- NDUFS4
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NECAP1
- NEDD4L
- NEXMIF
- NGLY1
- NHLRC1
- NPRL2
- NPRL3
- NRXN1
- NSD1
- NSDHL
- NTRK2
- NUBPL
- NUS1
- OCLN
- OPHN1
- OTUD6B
- OTX2
- P4HTM
- PACS1
- PACS2
- PAFAH1B1
- PAH
- PAK1
- PARS2
- PCCA
- PCCB
- PCDH12
- PCDH19
- PCLO
- PDHA1
- PDHX
- PDSS2
- PET100
- PEX1
- PEX10
- PEX12
- PEX13
- PEX19
- PEX2
- PEX3
- PEX5
- PEX6
- PEX7
- PHACTR1
- PHGDH
- PIGA
- PIGB
- PIGC
- PIGG
- PIGH
- PIGN
- PIGO
- PIGP
- PIGQ
- PIGT
- PIGU
- PIGW
- PIK3R2
- PLA2G6
- PLAA
- PLCB1
- PLPBP
- PMM2
- PNKP
- PNPO
- POLG
- POLG2
- POMGNT1
- POMT1
- POMT2
- PPP2CA
- PPP3CA
- PPT1
- PRICKLE1
- PRMT7
- PRODH
- PRRT2
- PSAP
- PSAT1
- PSPH
- PTF1A
- PTPN23
- PTS
- PURA
- QARS
- QDPR
- RAB11B
- RAB18
- RAB3GAP1
- RAB3GAP2
- RALA
- RANBP2
- RARS2
- RELN
- RFT1
- RHOBTB2
- RMND1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASET2
- RNF13
- RNU4ATAC
- ROGDI
- RORA
- RORB
- RPIA
- RRM2B
- RTN4IP1
- RTTN
- RUSC2
- RYR2
- SAMHD1
- SCAMP5
- SCARB2
- SCN1A
- SCN1B
- SCN2A
- SCN3A
- SCN8A
- SCN9A
- SCO1
- SCO2
- SDHA
- SEPSECS
- SETBP1
- SETD1B
- SETD5
- SGSH
- SIK1
- SIX3
- SLC12A5
- SLC13A5
- SLC16A2
- SLC1A2
- SLC1A4
- SLC25A1
- SLC25A12
- SLC25A22
- SLC2A1
- SLC35A1
- SLC35A2
- SLC35A3
- SLC45A1
- SLC6A1
- SLC6A8
- SLC9A6
- SMARCA2
- SMARCC2
- SMC1A
- SMS
- SNAP25
- SNIP1
- SNORD118
- SPATA5
- SPR
- SPTAN1
- SRPX2
- ST3GAL3
- ST3GAL5
- STAG1
- STAMBP
- STRADA
- STX1B
- STXBP1
- SUCLA2
- SUCLG1
- SUOX
- SURF1
- SYN1
- SYNGAP1
- SYNJ1
- SZT2
- TANC2
- TANGO2
- TBC1D20
- TBC1D24
- TBCD
- TBCK
- TBL1XR1
- TCF4
- TDP2
- TELO2
- TFE3
- TIMM50
- TMEM70
- TNK2
- TPP1
- TRAF7
- TRAK1
- TRAPPC12
- TRAPPC6B
- TREX1
- TRIM8
- TRIP13
- TRPM3
- TRPM6
- TRRAP
- TSC1
- TSC2
- TSEN15
- TSEN2
- TSEN34
- TSEN54
- TSFM
- TUBA1A
- TUBA8
- TUBB
- TUBB2A
- TUBB2B
- TUBB3
- TUBB4A
- TUBG1
- TXNRD1
- UBA5
- UBE2A
- UBE3A
- UFC1
- UFM1
- UNC80
- USP7
- VAMP2
- VARS
- VLDLR
- VPS11
- WARS2
- WASF1
- WDR37
- WDR45
- WDR45B
- WDR62
- WDR73
- WWOX
- YWHAG
- ZBTB18
- ZDHHC9
- ZEB2
- ZMIZ1
- ZNF142